A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554025



Internal ID327221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152153449..152153500hg38UCSC Ensembl
chr6:152474584..152474635hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989020
Samples
Known GenesSYNE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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